AI Article Synopsis
- Wyburn-Mason syndrome is a rare birth condition that causes arteriovenous malformations (AVMs) primarily in the retina and brain, with potential skin involvement, due to abnormal blood vessel development.
- The diagnosis of this syndrome relies on imaging methods like optical coherence tomography (OCT) and cerebral angiography, with symptoms varying in severity across three classification groups.
- Treatment is generally conservative unless there’s a high risk of AVM rupture, with options including surgical intervention and new therapies, highlighting the need for teamwork among specialists to improve patient care and outcomes.
Article Abstract
Wyburn-Mason syndrome is a rare congenital disorder characterized by arteriovenous malformations (AVMs) in the retina, brain, and occasionally the skin. The syndrome results from embryonic vascular abnormalities and presents with a wide spectrum of clinical manifestations, classified into three groups based on severity. Diagnosis relies heavily on imaging techniques, with optical coherence tomography (OCT) and cerebral angiography playing crucial roles. Management is typically conservative due to the stability of most AVMs, but intervention may be necessary when the rupture risk of intracranial AVMs exceeds 2.2% per year. Treatment options include endovascular embolization, surgical resection, and emerging therapies like intravitreal injections. This review emphasizes the importance of a multidisciplinary approach involving ophthalmologists, neurologists, and interventional radiologists, as well as regular monitoring of asymptomatic AVMs to optimize patient outcomes and quality of life.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11437018 | PMC |
| http://dx.doi.org/10.7759/cureus.68070 | DOI Listing |
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